ClinVar Miner

List of variants reported as likely pathogenic for Autosomal recessive DOPA responsive dystonia by SingHealth Duke-NUS Institute of Precision Medicine

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_000360.4(TH):c.364C>T (p.Arg122Ter)	rs771610752	0.00002
NM_000360.4(TH):c.714_715del (p.Leu239fs)	rs1564918287

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